Version 5.4
Homo sapiens Gene: MATR3
Summary
InnateDB Gene IDBG-47535.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MATR3
Gene Name matrin 3
Synonyms ALS21; MPD2; VCPDM
Species Homo sapiens
Ensembl Gene ENSG00000015479
Encoded Proteins
IDBP-47537
matrin 3
IDBP-240826
matrin 3
IDBP-240828
matrin 3
IDBP-474459
matrin 3
IDBP-480446
matrin 3
IDBP-482288
matrin 3
IDBP-480080
matrin 3
IDBP-474471
matrin 3
IDBP-483093
matrin 3
IDBP-478525
matrin 3
IDBP-477482
matrin 3
IDBP-475695
matrin 3
IDBP-483648
matrin 3
IDBP-481551
matrin 3
IDBP-479072
matrin 3
IDBP-483037
matrin 3
IDBP-484788
matrin 3
IDBP-477753
matrin 3
IDBP-474037
matrin 3
IDBP-483661
matrin 3
IDBP-481934
matrin 3
IDBP-476702
matrin 3
IDBP-478473
matrin 3
IDBP-481066
matrin 3
IDBP-475102
matrin 3
IDBP-475638
matrin 3
IDBP-476856
matrin 3
IDBP-473543
matrin 3
IDBP-812904
matrin 3
IDBP-812906
matrin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.[provided by RefSeq, Mar 2011]
This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:139273752-139331677
Strand Forward strand
Band q31.2
Transcripts
ENST00000361059 ENSP00000354346
ENST00000394805 ENSP00000378284
ENST00000394800 ENSP00000378279
ENST00000448190
ENST00000509990 ENSP00000423533
ENST00000506147 ENSP00000423521
ENST00000512107 ENSP00000423695
ENST00000507692
ENST00000506188
ENST00000513259
ENST00000514694 ENSP00000422233
ENST00000504203 ENSP00000421218
ENST00000502929 ENSP00000422319
ENST00000507197
ENST00000509644 ENSP00000421666
ENST00000508735
ENST00000514110
ENST00000505522
ENST00000505016 ENSP00000424431
ENST00000502394 ENSP00000427168
ENST00000512876 ENSP00000425150
ENST00000513678 ENSP00000424646
ENST00000513121
ENST00000504045 ENSP00000423290
ENST00000504311 ENSP00000422700
ENST00000502499 ENSP00000426030
ENST00000510056 ENSP00000426743
ENST00000511249 ENSP00000422649
ENST00000507860
ENST00000509918
ENST00000511978
ENST00000503811 ENSP00000423587
ENST00000511378 ENSP00000425167
ENST00000508689 ENSP00000422137
ENST00000514528 ENSP00000427557
ENST00000504643
ENST00000514488 ENSP00000426801
ENST00000503340 ENSP00000422590
ENST00000504023 ENSP00000421145
ENST00000515833 ENSP00000422054
ENST00000514402
ENST00000505625
ENST00000511333
ENST00000502422
ENST00000502944
ENST00000512040 ENSP00000421906
ENST00000618441 ENSP00000482895
ENST00000620916 ENSP00000480093
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 80 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 80 [view]
Protein-Protein 80 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0005198 structural molecule activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0044822 poly(A) RNA binding
Biological Process
Cellular Component
GO:0005634 nucleus
GO:0005637 nuclear inner membrane
GO:0016020 membrane
GO:0016363 nuclear matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037236
View Gene Order
ENSBTAG00000006756
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.595110 Hs.602545
RefSeq NM_001194954 NM_001194955 NM_001194956 NM_001282278 NM_018834 NM_199189
HUGO
OMIM
CCDS CCDS4210 CCDS54908 CCDS75316
HPRD 05270
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca